Results 91 to 100 of about 26,437 (217)

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Muhammad Hassan Raza, Hamza Asif, Sadia Anjum, Zaira Shahid, Moosa Mubarika, Abdulsattar Anjum, Hassan Abdullah Shakeel, Rejina Chhetri, Muneeb Khawar   +8 more
wiley   +1 more source

Pheochromocytoma With Langerhans Cell Histiocytosis: A Rare Tumor‐in‐Tumor Case

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Langerhans cell histiocytosis (LCH) occurring in a Pheochromocytoma in the adrenal gland is exceptionally rare and prone to misdiagnosis. The special coexistent tumors harbor distinct genetic mutations. This uncommon case could introduce novel considerations and a strong teaching message to all the clinicians and pathologists.
Cheng Lei, Yulong Guo, Yixin Luo, Qingchun Liang, Jiadi Luo   +4 more
wiley   +1 more source

Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma [PDF]

, 2012
Low-grade brain tumors (pilocytic astrocytomas) arising in the neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations ...
Demeter, Ryan, Ding, Li, Fulton, Lucinda L, Fulton, Robert S, Guha, Abhijit, Gutmann, David H, Hussain, Ibrahim, Kandoth, Cyriac, Leonard, Jeffrey R, Magrini, Vincent, Mardis, Elaine R, McLellan, Michael D, Miller, Christopher A, Wallis, John W, Wylie, Todd   +14 more
core   +2 more sources

Emerging genotype-phenotype relationships in patients with large NF1 deletions. [PDF]

, 2017
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions).
Cooper, David N, Kehrer‑Sawatzki, Hildegard, Mautner, Victor‑Felix   +2 more
core   +2 more sources

The chaperone TRAP1 as a modulator of the mitochondrial adaptations in cancer cells [PDF]

, 2017
Mitochondria can receive, integrate, and transmit a variety of signals to shape many biochemical activities of the cell. In the process of tumor onset and growth, mitochondria contribute to the capability of cells of escaping death insults, handling ...
Colombo, Giorgio, Masgras, Ionica, Rasola, Andrea, SANCHEZ MARTIN, Carlos   +3 more
core   +2 more sources

Apolipoprotein E Deficiency Impairs Human Microglial Proliferation Accompanied by Elevated Cellular Oxidative Stress

Journal of Cellular and Molecular Medicine, Volume 30, Issue 6, March 2026.
ABSTRACT The APOE gene, which encodes Apolipoprotein E (ApoE), is the strongest genetic risk locus for Alzheimer's disease (AD). A substantial fraction of AD risk genes converges on pathways controlling lipid metabolism and immune regulation, in which microglia serve as a central integrative hub in the brain.
Dayoung Kim, Takayuki Kondo, Keiko Imamura, Kayoko Tsukita, Ayako Nagahashi, Tomoki Sakasai, Haruhisa Inoue   +6 more
wiley   +1 more source

Loss of neurofibromin Ras-GAP activity enhances the formation of cardiac blood islands in murine embryos

eLife, 2015
Type I neurofibromatosis (NF1) is caused by mutations in the NF1 gene encoding neurofibromin. Neurofibromin exhibits Ras GTPase activating protein (Ras-GAP) activity that is thought to mediate cellular functions relevant to disease phenotypes.
Amanda D Yzaguirre, Arun Padmanabhan, Eric D de Groh, Kurt A Engleka, Jun Li, Nancy A Speck, Jonathan A Epstein   +6 more
doaj   +1 more source

Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1 [PDF]

, 2006
Background Neurofibromatosis 1 (NF1) is an autosomal dominantly inherited disorder caused by a spectrum of mutations affecting the Nf1 gene. Affected patients develop benign and malignant tumors at an increased frequency.
Edwards, Paul C., Fantasia, John E, Rosenberg, Tracey J, Ruggiero, Salvatore, Sachs, Stephen A, Saini, Tamjit   +5 more
core   +1 more source

Polo‐like kinases and UV‐induced skin carcinogenesis: What we know and what's next

Photochemistry and Photobiology, Volume 102, Issue 2, Page 276-289, March/April 2026.
The polo‐like kinase (PLK) family plays distinct and critical roles in the regulation of cell cycle progression, and its dysregulation has been implicated in various cancers. Ultraviolet (UV) radiation is a well‐established environmental factor in the development of skin cancer.
Tanya Jaiswal, Durdana Muntaqua, Gagan Chhabra, Nihal Ahmad   +3 more
wiley   +1 more source

Absence of Neurofibromin Induces an Oncogenic Metabolic Switch via Mitochondrial ERK-Mediated Phosphorylation of the Chaperone TRAP1

Cell Reports, 2017
Mutations in neurofibromin, a Ras GTPase-activating protein, lead to the tumor predisposition syndrome neurofibromatosis type 1. Here, we report that cells lacking neurofibromin exhibit enhanced glycolysis and decreased respiration in a Ras/ERK-dependent
Ionica Masgras, Francesco Ciscato, Anna Maria Brunati, Elena Tibaldi, Stefano Indraccolo, Matteo Curtarello, Federica Chiara, Giuseppe Cannino, Elena Papaleo, Matteo Lambrughi, Giulia Guzzo, Alberto Gambalunga, Marco Pizzi, Vincenza Guzzardo, Massimo Rugge, Stefania Edith Vuljan, Fiorella Calabrese, Paolo Bernardi, Andrea Rasola   +18 more
doaj   +1 more source